E-LIB Suche - Ergebnisse für: Szepetowski, S.

1

Le syndrome NISCH, une cause rare de cholestase néonatale :..:

Szepetowski, S. ; Lacoste, C. ; Mallet, S....
Archives de Pédiatrie. 24 (2017) 12 - p. 1228-1234 , 2017

Link: https://doi.org/10.1016/..

2

Update on the genetics of the epilepsy‐aphasia spectrum and..:

Lesca, Gaetan ; M⊘ller, Rikke S. ; Rudolf, Gabrielle...
Epileptic Disorders. 21 (2019) S1 - p. , 2019

Link: https://doi.org/10.1684/..

3

OP13 – 2799: Landau-Kleffner syndrome (LKS), continuous spi..:

Wright, S. ; Waters, P. ; Lesca, G....
European Journal of Paediatric Neurology. 19 (2015) - p. S5 , 2015

Link: https://doi.org/10.1016/..

4

GRIN2A mutations cause epilepsy-aphasia spectrum disorders:

Carvill, Gemma L ; Regan, Brigid M ; Yendle, Simone C...
Nature Genetics. 45 (2013) 9 - p. 1073-1076 , 2013

Link: https://doi.org/10.1038/..

5

An SCN2A mutation in a family with infantile seizures from ..:

Lauxmann, Stephan ; Boutry‐Kryza, Nadia ; Rivier, Clotilde...
Epilepsia. 54 (2013) 9 - p. , 2013

Link: https://doi.org/10.1111/..

6

Severe epilepsy, retardation, and dysmorphic features with ..:

Pereira, S. ; Vieira, J. P. ; Barroca, F....
Neurology. 63 (2004) 1 - p. 191-192 , 2004

Link: https://doi.org/10.1212/..

7

PIP2binding residues of Kir2.1 are common targets of mutati..:

Donaldson, M. R. ; Jensen, J. L. ; Tristani–Firouzi, M....
Neurology. 60 (2003) 11 - p. 1811-1816 , 2003

Link: https://doi.org/10.1212/..

8

Homozygous Defects In Lmna, Encoding Lamin A/C Nuclear‐Enve..:

De Sandre‐Giovannoli, A ; Chaouch, M ; Kozlov, S...
Journal of the Peripheral Nervous System. 7 (2002) 3 - p. 205-205 , 2002

Link: https://doi.org/10.1046/..

9

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah, C ; Sadleir, Lynette, G ; Zemel, Matthew...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023

Link: https://amu.hal.science/..

10

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah, C ; Sadleir, Lynette, G ; Zemel, Matthew...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023

Link: https://amu.hal.science/..

11

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C ; Sadleir, Lynette G ; Zemel, Matthew...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946193/. , 2023

Link: http://www.ncbi.nlm.nih...

12

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C ; Sadleir, Lynette G ; Zemel, Matthew...
https://research.rug.nl/en/publications/96a4cb4f-d328-42c4-b5ae-e38ebefebb41. , 2023

Link: https://hdl.handle.net/1..

13

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah, C ; Sadleir, Lynette, G ; Zemel, Matthew...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023

Link: https://amu.hal.science/..

14

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah, C ; Sadleir, Lynette, G ; Zemel, Matthew...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023

Link: https://amu.hal.science/..

15

Loss of function of the retinoid-related nuclear receptor (..:

Rudolf, Gabrielle ; Lesca, Gaetan ; Mehrjouy, Mana M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117930/. , 2016

Link: http://www.ncbi.nlm.nih...